In this week’s Sunday Science, a call for a crackdown on home genetic test kits, the first NHS approved gene silencing therapy, climate change heats up, how overworking could give you a stroke, and how some dinosaurs were more devoted parents than we first thought….
Doctors have called for a crackdown on home genetics companies that claim to test for various – potentially very serious – health conditions. Not before time, in my considered opinion. These companies offer services in which you can send in a sample of DNA (for example from a cheek swab), or send your data from an ancestry tracing service like 23andMe, and have it tested for genetic risk factors for various diseases. The trouble is that the tests they use are not of the gold-standard sensitivity that a clinician would use – and this means lots of people get false results. This is particularly an issue for rare mutations – these tests are just not sensitive enough. Another problem is that these results are provided without the detailed advice a clinician would give to actually explain what it means. The general public cannot – and should not – be expected to have an advanced understanding of genetics in order to understand their test results, which are anyway more likely to be wrong than right in some cases! The news article details alarming examples including women scheduling preventative mastectomies having falsely tested positive for the breast cancer linked BRCA mutation. One of the studies as to the accuracy of these technologies can be found here (open access).
Good genetics news now: the NHS in the UK has approved the use of a gene-silencing medicine for the treatment of the disease amyloidosis, a devastating and frequently fatal hereditary illness. The medicine, Patisiran, works by destroying the intermediate “message” RNA that is used to synthesis the – in this case – faulty protein which causes the disease. Original clinical trial results here.
Good news for those of us who aren’t workaholics – but bad news for those don’t have much choice about long working hours: working a 10 hour day at least once a week increases stroke risk by a third. If you work 10 hours a day or more for 50 days a year (or more) then the risk increases by 29%, looking at the actual numbers. That’s really quite a lot, and the risk increases if you do this over a number of years, unsurprisingly – but what is surprising is that the increased risk seems worse for younger workers. Globally, stroke is the second most frequent cause of death, and is a huge cause of disability, so this is important research to take on board. Original study here (open access).
In yet another sign that I should definitely not take up poker, an AI called Pluribus has beaten professional human players at no-limit six player Texas hold’em poker. This is a big deal because previously no AI has managed to win against elite human players in a game with more than two other players. The AI essentially learnt the best strategy by playing thousands of games against itself, optimising the best decisions to take. Whilst beating people at poker isn’t that practically useful, the same principle could in theory be applied to help automate other complex decision-making systems, such as self-driving cars.
I am currently typing this on the hottest July day ever recorded in the UK (which I am not enjoying), so this headline is appropriate: scientists have concluded that the recent extreme warming we’ve seen is unprecedented in the past 2000 years. That humans are responsible for global warming is now without doubt. Although there have been times over the past 2000 years in which there have been unusual extremes of temperature, and usually due to big changes in volcanic activity, the current trend is unprecedented. The news article is based on three big studies, which can be found here, here and here (regrettably all paywalled, but abstracts are free).
A beautiful dinosaur fossil site from Mongolia (featured image) provides evidence that dinosaurs, like some modern birds, laid eggs in a communal nesting site and probably protected them from predators. This sophisticated behaviour greatly increases the chances of successful hatching – and overturns simplistic ideas about dinosaurs laying their eggs and walking away. The dinosaurs in this case are theropods, similar to Velociraptor. You’ll also note from the artist’s impression that they are feathery, something that would also have been unthinkable not so long ago – it’s really exciting how our knowledge of dinosaurs is increasing all the time. Original study in Geology here (paywalled).
Earlier this year I briefly discussed a study on a new type of “topological insulator” material in a Sunday Science post (here), the physics of which quite eluded me but seemed to have a lot of potential. I at least had that last bit right, as there seems to be an explosion of research into topological materials with some potentially very exciting and useful properties, as reviewed nicely and not too technically in this opinion piece here.
And finally, permanent liquid magnets, moving rather hypnotically here:
Artist’s impression of non-avian (non-bird) theropod dinosaurs guarding their nests of eggs. Credit: Masato Hattori via Nature Publishing.